Concepedia
Statistics
Publications
6
Citations
476
H-Index
Active since
2010
Affiliations
King Fahad Central Hospital(Current)
King Faisal Specialist Hospital & Research Centre
Alfaisal University
Riyadh Armed Forces Hospital
King Saud University
Ali Awaji is an author at King Fahad Central Hospital specializing in genetics, genetic disorders, and molecular genetics.
Publications per year
2010–2020
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
Mohammed A. Aldahmesh, Yuanyuan Li, Amal Alhashem et al. · Human Molecular Genetics · 2014 · 141 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
Mutation in <i>ADAT3</i>, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
Anas M. Alazami, Hadia Hijazi, Mohammed S. Al‐Dosari et al. · Journal of Medical Genetics · 2013 · 129 citations
Life Sciences, Genetics, Molecular Genetics +17
Mutations in <i>FKBP10</i> cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
Ranad Shaheen, Mohammed Al‐Owain, Eissa Faqeih et al. · American Journal of Medical Genetics Part A · 2011 · 75 citations
Life Sciences, Genetics, Molecular Genetics +13
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 56 citations · Full text
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy
Zuhair N. Al‐Hassnan, Abdulrahman Almesned, Sahar Tulbah et al. · Circulation Genomic and Precision Medicine · 2020 · 44 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
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